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Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil
Alice Brinckmann Oliveira Netto1,2,3, Marina Hentschke-Lopes2,4, Fernanda Bender Pasetto5
1Universidade Federal do Rio Grande do Sul, Programa de Pós-Graduação em Genética e Biologia Molecular, Porto Alegre, Brazil.
Insights
Neonatal screening for spinal muscular atrophy (SMA) identified 7 cases in 80,000 newborns, revealing an incidence of 1 in 11,428 live births in Brazil. Early detection through screening is crucial for effective SMA treatment.
Area of Science:
- Genetics
- Neurology
- Public Health
Background:
- Spinal muscular atrophy (SMA) is a common autosomal recessive disorder.
- Early intervention in pre-symptomatic infants improves treatment efficacy.
- Neonatal screening (NBS) is recommended for SMA due to available therapies.
Purpose of the Study:
- To determine the incidence of 5q-SMA in Brazilian newborns.
- To assess the feasibility of incorporating SMA screening into existing NBS programs.
- To provide data for planning nationwide SMA screening in Brazil.
Main Methods:
- Real-time PCR (SALSA MC002) was used to screen dried blood spots from 80,000 newborns.
- Samples were collected from routine NBS programs in four Brazilian states.
- Multiplex ligation-dependent probe amplification (MLPA) confirmed positive cases.
Main Results:
- Seven cases of 5q-SMA were identified among 80,000 screened newborns.
- The incidence of 5q-SMA in Brazil was calculated as 1 in 11,428 live births.
- This incidence is comparable to global estimates.
Conclusions:
- The study establishes a regional incidence rate for 5q-SMA in Brazil.
- Findings support the implementation of SMA screening within Brazil's NBS.
- Expanding SMA screening is vital for early diagnosis and management.
Abstract:
Spinal muscular atrophy (SMA) is considered one of the most common autosomal recessive disorders, with an estimated incidence of 1 in 10,000 live births. Testing for SMA has been recommended for inclusion in neonatal screening (NBS) panels since there are several therapies available and there is evidence of greater efficacy when introduced in the pre/early symptomatic phases. In the present study, dried blood spot samples collected by the Reference Services of Neonatal Screening of the Brazilian states of Rio Grande do Sul, Sao Paulo, Mato Grosso and Bahia to perform the routine NBS panel were also screened for 5q-SMA, using real-time PCR (SALSA MC002 technique). In this study, samples from 80,000 newborns were analyzed, enabling the identification of 7 5q-SMA cases, which were confirmed by multiplex ligation-dependent probe amplification (MLPA). Considering our findings, Brazil has an incidence of 5q-SMA of 1 in 11,428 live births. This work expands regional knowledge about the incidence of SMA and is fundamental for planning the implementation of screening for this condition in Brazil.
